IDH1 mutations is prognostic marker for primary glioblastoma multiforme but MGMT hypermethylation is not prognostic for primary glioblastoma multiforme |
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Authors: | Rasime Kalkan,Emine İkbal Atli,Muhsin Ö zdemir,Evrim Ç iftç i,Hasan Emre Aydin,Sevilhan Artan,Ali Arslantaş |
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Affiliation: | 1. Department of Medical Genetics, Faculty of Medicine, Near East University, Nicosia, Mersin 10, Turkey;2. Department of Medical Genetics, School of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey;3. Acibadem University, Department of Molecular Biology and Genetics, Istanbul, Turkey;4. Department of Neurosurgery, School of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey;5. Department of Pathology, School of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey |
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Abstract: | PurposeTo establish the frequency of IDH1 mutations and MGMT methylation in primary glioblastomas.Experimental designWe screened primary glioblastoma multiforme (GBM) in a population-based study for IDH1 mutations and MGMT methylation and correlated them with clinical data.ResultsIDH1 mutations were detected in 5 of 40 primary glioblastomas (12,5%). Primary GBM patients carrying IDH1 mutations were significantly younger, mean age of 41 ± 5.06 years, than patients with wild-type IDH1, mean age of 57 ± 2,29 years, p = 0.011. The mean survival time of all GBM patients with and without IDH1 mutations was 19 months (5 cases) and 16 months (35 cases), respectively (p > 0,05). MGMT methylation was detected in 13 of the 40 patients (32,5%). MGMT-promoter methylation did not correlate with overall survival (OS; p > 0,05).ConclusionIn summary, our study is the first study to investigate the IDH1 mutation status and MGMT methylation in primary GBMs in Turkish population and confirmed IDH1 mutation as a genetic marker for also primary GBMs. Our data are still insufficient for definite ascertainment; and our preliminary results suggest: IDH1 status shows an association with younger age and there is a lack of association between IDH1 mutation and survival time. Furthermore MGMT promoter methylation had no prognostic value and lower frequency in primary glioblastomas. |
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Keywords: | GBM, glioblastoma multiforme IDH1, isocitrate dehydrogenase 1 MGMT, O6-methylguanine-DNA methyltransferase MS-HRM, methylation sensitive high resolution melting MS-MLPA, methylation sensitive multiplex ligation-dependent probe amplification pGBMs, primary glioblastoma multiforme qMSP, quantitative methylation specific PCR PCR, polymerase chain reaction |
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